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https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#1
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28636991/non-invasive-detection-of-somatic-mutations-using-next-generation-sequencing-in-primary-central-nervous-system-lymphoma
#2
Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre-Julien Viailly, Sydney Dubois, Philippe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Lepretre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin
PURPOSE: Primary central nervous system lymphomas (PCNSL) have recurrent genomic alterations. The main objective of our study was to demonstrate that targeted sequencing of circulating cell-free DNA (cfDNA) released by PCNSL at the time of diagnosis could identify somatic mutations by next-generation sequencing (NGS). PATIENTS AND METHODS: PlasmacfDNA and matched tumor DNA (tDNA) from 25 PCNSL patients were sequenced using an Ion Torrent Personal Genome Machine (Life Technologies®)...
June 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636544/analysis-of-esr1-and-pik3ca-mutations-in-plasma-cell-free-dna-from-er-positive-breast-cancer-patients
#3
Takashi Takeshita, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Mai Tomiguchi, Aiko Sueta, Keiichi Murakami, Yoko Omoto, Hirotaka Iwase
BACKGROUND: The measurement of ESR1 and PIK3CA mutations in plasma cell-free DNA (cfDNA) has been studied as a non-invasive method to quickly assess and monitor endocrine therapy (ET) resistant metastatic breast cancer (MBC) patients. METHODS: The subjects of this retrospective study were a total of 185 plasma samples from 86 estrogen receptor-positive BC patients, of which 151 plasma samples were from 69 MBC patients and 34 plasma samples were from 17 primary BC (PBC) patients...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28622381/cell-free-dna-release-by-mouse-placental-explants
#4
Mark Phillippe, Sharareh Adeli
Although suggested that "fetal" cell-free DNA (cfDNA) is derived from trophoblast cells, the exact origin is unclear. The studies in this report sought to demonstrate that placental tissue releases cfDNA in parallel with cell death, that the size range of cfDNA is similar to that found in maternal plasma, and that the cfDNA fragments are able to stimulate a proinflammatory cytokine response. Placentas were harvested from near term pregnant CD-1 mice and cultured in DMEM/Ham's F12/FBS media in 8% or 21% O2. After centrifugation to remove cells and cellular debris, the cfDNA was extracted from the media and quantified by DNA spectrophotometry...
2017: PloS One
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#5
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28611200/dendritic-cell-cytokine-induced-killer-cell-immunotherapy-combined-with-s-1-in-patients-with-advanced-pancreatic-cancer-a-prospective-study
#6
Ni Jiang, Guoliang Qiao, Xiao-Li Wang, Michael A Morse, William R Gwin, Lei Zhou, Yuguang Song, Yanjie Zhao, Feng Chen, Xin-Na Zhou, Lefu Huang, Amy Hobeika, Xin Yi, Xuefeng Xia, Yanfang Guan, Jin Song, Jun Ren, H Kim Lyerly
Purpose: Advanced pancreatic cancer has remained challenging to treat effectively. This study aimed to investigate the clinical effects and safety of immunotherapy with dendritic cells and cytokine induced killer cells (DC-CIK) administered with the chemotherapy (CT) S-1 in this malignancy. <p> Experimental Design: Consecutive patients (n=47) with advanced pancreatic cancer were treated with either DC-CIK + S-1, DC-CIK alone, S-1 alone, or best supportive care.</p> <p> Results: DC-CIK plus S-1 produced significantly longer median OS and PFS (212 and 136 days) compared with DC-CIK (128 and 85 days), CT (141 and 92 days) or supportive care only (52 and 43 days) (P<0...
June 13, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28601386/detection-of-alk-and-kras-mutations-in-circulating-tumor-dna-of-patients-with-advanced-alk-positive-nsclc-with-disease-progression-during-crizotinib-treatment
#7
Paola Bordi, Marcello Tiseo, Eleonora Rofi, Iacopo Petrini, Giuliana Restante, Romano Danesi, Marzia Del Re
BACKGROUND: In patients with anaplastic lymphoma kinase (ALK)-positive non-small-cell lung cancer (NSCLC), disease progression occurs after a median of 9 to 10 months of crizotinib treatment. Several mechanisms of resistance have been identified and include ALK mutations and amplification or the activation of bypassing signaling pathways. Rebiopsy in NSCLC patients represents a critical issue and the analysis of circulating cell-free DNA (cfDNA) has a promising role for the identification of resistance mechanisms...
May 18, 2017: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28599456/dynamic-monitoring-of-egfr-mutations-in-circulating-cell-free-dna-for-egfr-mutant-metastatic-patients-with-lung-cancer-early-detection-of-drug-resistance-and-prognostic-significance
#8
Jianjiao Ni, Linqian Weng, Yi Liu, Zhao Sun, Chunmei Bai, Yingyi Wang
Detecting genetic mutations in circulating cell-free DNA (cfDNA) is a promising approach of liquid biopsy. Between June 2014 and May 2015, 168 plasma samples were collected monthly from 20 patients with metastatic lung adenocarcinoma with epidermal growth factor receptor (EGFR) mutation receiving gefitinib therapy. Clinically relevant EGFR mutations, including exon 19 deletion, L858R and T790M, were quantified using droplet digital polymerase chain reaction. In baseline samples, 19 (95.0%) patients had the same mutation with the matched tumors, and pretreatment T790M mutations were also detected in 3 (15...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28592717/hypomethylated-ubiquitin-conjugating-enzyme2-q1-ube2q1-gene-promoter-in-the-serum-is-a-promising-biomarker-for-hepatitis-b-virus-associated-hepatocellular-carcinoma
#9
Na Hu, Xiao-Peng Fan, Yu-Chen Fan, Long-Yan Chen, Chen-Yang Qiao, Li-Yan Han, Kai Wang
Aberrant DNA methylation, which can be detected in circulating cell-free DNA (cfDNA), is one of the major epigenetic alterations in hepatocellular carcinoma (HCC). UBE2Q1, a putative member of the ubiquitin-conjugating enzyme family, might play substantial roles in tumorigenesis. However, the methylation status of the UBE2Q1 gene in HCC remains unknown. We aimed to determine the methylation status of the UBE2Q1 gene promoter and to evaluate its potential clinical significance for HCC detection. The methylation-specific polymerase chain reaction (MSP) assay was used to detect the UBE2Q1 gene methylation status in serum samples from 80 patients with hepatitis B virus (HBV)-related HCC, 40 patients with liver cirrhosis (LC), 40 patients with chronic hepatitis B (CHB), and 20 healthy controls (HCs)...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28592703/real-time-transferrin-based-pet%C3%A2-detects-myc-positive-prostate-cancer
#10
Rahul Aggarwal, Spencer Behr, Pamela L Paris, Charles Truillet, Matthew F L Parker, Loc T Huynh, Junnian Wei, Byron Hann, Jack Youngren, Gayatri Premasekharan, Jiaoti Huang, Nimna Ranatunga, Emily Chang, Kenneth T Gao, Charles J Ryan, Eric J Small, Michael J Evans
Non-invasive biomarkers that detect the activity of important oncogenic drivers could significantly improve cancer diagnosis and management of treatment. The goal of this study was to determine if 68Ga-citrate (which avidly binds to circulating transferrin) labeled transferrin (Tf) can detect MYC-positive prostate cancer tumors, since the transferrin receptor is a direct MYC target gene. Positron emission tomography (PET) imaging paired with 68Ga-citrate and molecular analysis of preclinical models, human cell-free DNA (cfDNA) and clinical biopsies were conducted to determine whether 68Ga-citrate can detect MYC-positive prostate cancer...
June 7, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28591711/dna-hypomethylation-of-cbs-promoter-induced-by-folate-deficiency-is-a-potential-noninvasive-circulating-biomarker-for-colorectal-adenocarcinomas
#11
Geng Xue, Chao-Jing Lu, Shu-Jun Pan, Yin-Ling Zhang, Hui Miao, Shi Shan, Xiao-Ting Zhu, Yi Zhang
Aberrant DNA methylation patterns, which induced by folate deficiency, play important roles in tumorigenesis of colorectal cancer (CRC). Some DNA methylation alterations can also be detected in cell-free DNA (cfDNA) of patients' plasma, making cfDNA an ideal noninvasive circulating biomarker. However, exact DNA methylation alterations induced by folate deficiency in tumorigenesis of CRC and exact potential circulating cfDNA methylation biomarker are still unclear. Therefore, DNA methylation patterns of the normal human colon mucosal epithelial cell line (NCM460), cultured with normal or low folate content, were screened and the DNA hypomethylation of cystathionine-beta-synthase (CBS) promoter was further validated in vitro and vivo...
May 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28590928/diagnosis-of-pneumocystis-jirovecii-pneumonia-with-serum-cell-free-dna-in-non-hiv-infected-immunocompromised-patients
#12
Dong Wang, Yang Hu, Ting Li, Heng-Mo Rong, Zhao-Hui Tong
Conventional respiratory tract specimens, such as bronchoalveolar lavage (BAL) fluid and induced sputum for diagnosing Pneumocystis jirovecii pneumonia (PCP) in immunocompromised patients are difficult to obtain. Besides, bronchoscopy is an invasive procedure that carries the risk of causing rapidly progressive respiratory insufficiency. By contrast, serum cell-free DNA (cfDNA) is easy to obtain and has been proven useful in diagnosing cancer, pregnancy associated complications, parasite infection and sepsis...
May 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28587748/liquid-biopsy-of-pik3ca-mutations-in-cervical-cancer-in-hong-kong-chinese-women
#13
Tony K H Chung, Tak Hong Cheung, So Fan Yim, Mei Yun Yu, Rossa W K Chiu, Keith W K Lo, Ida P C Lee, Raymond R Y Wong, Kitty K M Lau, Vivian W Wang, Michael J Worley, Kevin M Elias, Stephen J Fiascone, David I Smith, Ross S Berkowitz, Yick Fu Wong
INTRODUCTION: Cervical cancer is the fourth most common female cancer worldwide. The prognosis for women with advanced-stage or recurrent cervical cancer remains poor and response to treatment is variable. Standardized management protocols leave little room for individualization. We report on a novel blood-based liquid biopsy for specific PIK3CA mutations as a clinically useful biomarker in patients with invasive cervical cancer. METHODS: One hundred seventeen Hong Kong Chinese women with primary invasive cervical cancer and their pre-treatment plasma samples were investigated...
June 3, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28585898/circulating-extracellular-dna-levels-are-acutely-elevated-in-ischaemic-stroke-and-associated-with-innate-immune-system-activation
#14
Grant C O'Connell, Ashley B Petrone, Connie S Tennant, Noelle Lucke-Wold, Yasser Kabbani, Abdul R Tarabishy, Paul D Chantler, Taura L Barr
OBJECTIVE: The objective of this work was to assess the ability of peripheral blood cell-free DNA (cfDNA) levels to identify ischaemic stroke early in the acute phase of care, as well as to examine the relationship between peripheral blood cfDNA levels and stroke-induced innate immune system activation. METHODS: Upon emergency department admission, peripheral blood samples were obtained from 43 patients experiencing acute ischaemic stroke and 20 patients identified as stroke mimics...
June 6, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28574818/characterization-of-the-release-and-biological-significance-of-cell-free-dna-from-breast-cancer-cell-lines
#15
Wei Wang, Peng Kong, Ge Ma, Li Li, Jin Zhu, Tiansong Xia, Hui Xie, Wenbin Zhou, Shui Wang
In breast cancer, cell-free DNA (cfDNA) has been proven to be a diagnostic and prognostic biomarker. However, there have been few studies on the origin and biological significance of cfDNA. In this study, we assessed the release pattern of cfDNA from breast cancer cell lines under different culture conditions and investigated the biological significance of cfDNA. The cfDNA concentration increased rapidly (6 h) after passage, decreased gradually, and was then maintained at a relatively stable level after 24 h...
May 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28573775/isuog-updated-consensus-statement-on-the-impact-of-cfdna-aneuploidy-testing-on-screening-policies-and-prenatal-ultrasound-practice
#16
L J Salomon, Z Alfirevic, F Audibert, K O Kagan, D Paladini, G Yeo, N Raine-Fenning
No abstract text is available yet for this article.
June 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28572683/cell-free-dna-from-human-plasma-and-serum-differs-in-content-of-telomeric-sequences-and-its-ability-to-promote-immune-response
#17
Alzbeta Zinkova, Iva Brynychova, Alexander Svacina, Marie Jirkovska, Marie Korabecna
Circulating cell-free DNA (cfDNA) may be involved in immune response regulation. We studied the variations in abundance of telomeric sequences in plasma and serum in young healthy volunteers and the ability of cfDNA contained in these samples to co-activate the TNF-α m RNA expression in monocytes. We performed qPCR to determine relative telomere length (T/S ratios) in plasma, serum and whole blood of 36 volunteers. Using paired samples of plasma and serum and DNase treatment, we analysed the contribution of cfDNA to the co-activation of TNF-α mRNA expression in THP1 monocytic cell line...
June 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28572536/the-detection-and-significance-of-egfr-and-braf-in-cell-free-dna-of-peripheral-blood-in-nsclc
#18
Yang Yang, Xiaoyan Shen, Rutian Li, Jie Shen, Hang Zhang, Lixia Yu, Baorui Liu, Lifeng Wang
OBJECTIVE: Although driver mutation status is crucial to targeted therapy decision-making in non-small cell lung cancer (NSCLC), due to unavailable or inadequate biopsies, there are still many patients with unknown mutation status. A promising way to solve this problem is liquid biopsy, such as cell-free DNA (cfDNA) in peripheral blood. Additionally, due to the little amount of cfDNA, detecting methods with high sensitivity, specificity and economy are required in clinical practice. Here, we explored the feasibility of Competitive Allele-Specific TaqMan® PCR (CastPCR) detecting driver mutations in cfDNA from plasma in lung adenocarcinoma patients...
May 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28557629/comparative-analysis-of-12-different-kits-for-bisulfite-conversion-of-circulating-cell-free-dna
#19
Mai-Britt Worm Ørntoft, Sarah Østrup Jensen, Thomas Birkballe Hansen, Jesper Bertram Bramsen, Claus Lindbjerg Andersen
Blood circulating cell-free DNA (cfDNA) is becoming popular in the search of promising predictive and prognostic biomarkers. Among these biomarkers, cfDNA methylation markers have especially gained considerable attention. A significant challenge in the utilization of cfDNA methylation markers is the limited amount of cfDNA available for analyses; reportedly, bisulfite conversion (BSC) reduce cfDNA amounts even further. Nevertheless, few efforts have focused on ensuring high cfDNA conversion efficiency and recovery after BSC...
May 30, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28540249/liquid-biopsies-for-bladder-cancer
#20
EDITORIAL
Douglas G Ward, Richard T Bryan
The development of accurate urinary biomarkers for the non-invasive detection of urothelial bladder cancer (UBC) could transform patient pathways by reducing reliance on cystoscopy, and the identification of highly prognostic (or even predictive) biomarkers could better guide patient management. A number of approaches are being utilised to address these challenges in both urinary- and plasma-borne tumour DNA (tDNA), so-called "liquid biopsies". Next generation sequencing (NGS) and droplet digital PCR (ddPCR) allow detection of very low levels of such tDNA amongst a large excess of non-tumour DNA, the former permitting large mutation panels to be assessed and the latter potentially identifying ultrarare mutant alleles yet restricted for multiplexing...
April 2017: Translational Andrology and Urology
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